1/5. A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome.We report a family with distal arthrogryposis and cleft palate which demonstrates the clinical overlap between Gordon syndrome and Aase-Smith syndrome. The two syndromes may represent a single clinical entity.- - - - - - - - - - ranking = 1keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
2/5. Popliteal pterygium syndrome with unusual features.Popliteal pterygium syndrome is a well defined complex that consists of popliteal pterygium, intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, syndactyly, valgus or varus deformities of the feet and oral anomalies such as cleft lip-palate. A baby with the typical anomalies as well as a few unusual features such as mongloid slant, hypertelorism, malformed alae nasi and elbow joint contractures is reported.- - - - - - - - - - ranking = 0.029700384322441keywords = cleft, palate (Clic here for more details about this article) |
3/5. adult ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.Several ectodermal dysplasia syndromes have been shown to result from mutations in the gene that encodes the transcription factor p63. We describe an 11-year-old boy, with clinically normal parents, who had a developmental disorder that resembled EEC (ectrodactyly ectodermal dysplasia-clefting) syndrome (OMIM 604292). He had ectrodactyly and missing middle fingers bilaterally, onychodysplasia, hypodontia with missing teeth, hypohidrosis and lacrimal duct obstruction. dna sequencing disclosed a heterozygous G-->A substitution at nucleotide 893, that converts an arginine residue (CGA) to glutamine (CAA), the mutation being designated R298Q. This mutation occurs within the dna-binding domain of p63, and is close to many of the published EEC syndrome mutations. However, R298Q has been described once previously in a large German pedigree, not with EEC syndrome, but another ectodermal dysplasia disorder, adult (acro-dermato-ungual-lacrimal-tooth) syndrome (OMIM 103285). Further clinical assessment in our patient revealed that, apart from not having cleft lip and/or palate, he had an exfoliative dermatitis of his hands and feet, and some freckling on his face and shoulders. Collectively, these features support a diagnosis of adult syndrome. This study has identified a specific genotype-phenotype correlation in a rare ectodermal dysplasia syndrome and the findings are useful in improving genetic counselling in this family.- - - - - - - - - - ranking = 0.045026171144055keywords = cleft, palate (Clic here for more details about this article) |
4/5. Another case of microcephaly, facial clefting, and preaxial polydactyly.We describe a nine month old boy with failure to thrive, developmental delay, bilateral cleft lip and palate, and left preaxial polydactyly. The features are similar to those in a child described by Howard and Young and may be the second case of a previously unknown syndrome.- - - - - - - - - - ranking = 0.0910035316089keywords = cleft, palate (Clic here for more details about this article) |
5/5. Examine your orofacial cleft patients for Gorlin-Goltz syndrome.The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and intracranial calcifications. A myriad of additional findings may also be noted. Among the most frequent are: palmar and plantar pits, a characteristic flattened facies and broad nasal root, frontal and parietal bossing, mandibular prognathia, hypertelorism, strabismus, dystrophia of the canthi, and clefts of the lip, alveolus, and/or palate. In this study, we review the literature and our 25 cases of Gorlin-Goltz syndrome patients, questioning their incidence of cleft formations (8.5%) as compared to the general population (0.1%). It is our contention that all patients who present with an orofacial cleft warrant deeper investigation as to the presence of additional signs indicative of Gorlin-Goltz syndrome. The nevi turn malignant with time, and thus, early diagnosis, follow-up, and treatment are imperative.- - - - - - - - - - ranking = 0.12165510525213keywords = cleft, palate (Clic here for more details about this article) |